by Angela Davis, Marquette, Michigan
I first started noticing something was a bit off when I was around age 15. People often asked if I hurt my leg or knee. They said it looked like I was walking with a limp. I always said, “No, I am fine,” and brushed it off. After a while, I got sick of people asking so I would make up an excuse and say yes I tripped or hurt my ankle so they would stop asking.
Around age 19 when I started a part-time job working at a lumber company stocking shelves, I noticed that it was very hard to put my hands above my head. I just assumed that this was because the boxes were heavy. I thought that it was normal and I just wasn’t as strong as the men. Again, I brushed this off. Months afterward, I would come home crying from back and neck pain and just couldn’t understand it. I consulted many doctors and eventually was led to a local medical center where they hooked electrodes up to my back that would stimulate and move my muscles for me. This hurt and didn’t give much relief. I also had upper arm pain that was unexplained.
Years went on, doctors’ appointments would go on. No one knew what was wrong. My general physician knew of my neck and back pain. I started seeing chiropractors that offered some relief but the pain always came back. I started acupuncture and cupping. Those helped for a brief time but again not long-term. I started to think I was going crazy. How could I be hurting so much at such a young age?
My dad was officially diagnosed with FSHD1 from Mayo Clinic about 4 months ago. My father lives in chronic pain and treats his symptoms with medication (pills) and they have some terrible side effects. When we go swimming I always noticed his scapular area looked funny and his “angel wings” on his back. We now realize that my grandfather had this disease as well.
After my dad got his official diagnosis from Mayo Clinic, a note was enclosed that said this was hereditary and that his children (just myself) had a 50 percent chance of having this muscular dystrophy. The closest lab and genetic specialist was in Green Bay, Wisconsin, so we traveled there. I met with genetic specialist Emma Sabel and she explained the procedure, which was a simple yet extremely expensive blood test. This test would let me know if I had the same disease as my father.
I received a voice mail from Emma confirming that I did indeed have FSHD1. She explained the kilobases (Kb) of the “repeat units” in my genes. My number was at 29 Kb, and my fathers was a 33. She mentioned that normal was over 38 Kb. With my number being lower then my father, it was disheartening. I had a quick sob session and went to the gym that same night—the night I learned that I had muscular dystrophy.
I strongly urge anyone who has a family history of FSHD to get genetically tested because although there is no cure today, this doesn’t meant there won’t be one in the future. And having a diagnosis of FSHD does not define a person.
I work full time as a secretary at our local university, and sitting at a desk staring at a computer screen and typing all day does not help. I often have to get up and take breaks or short walks and stretch my back muscles out. Currently I do not take medication or other substances to treat my symptoms. I treat my pain symptoms with yoga, swimming, and light weight lifting. I try to keep my posture straight while sitting. I pray and attend church regularly. I give praise to God to help look over me and my father. I have a strong faith, strong family, and great friends that I know I could lean on if need be.
I have an 8 year old daughter and I am fully aware that she has a 50 percent risk of having FSHD. We will not have her tested until she is 18. I do not want her to even be aware of my condition or pain. I don’t want her to have to worry about me or what her future holds. I want her to be active and participate in sports.
I wish more people knew about this disease and how debilitating it is. Every single person with this disease has similar yet different symptoms. I choose to focus on the positive and live life like it could be my last day.
Recently, we went on a family vacation to Orlando and went swimming with dolphins. This is something that was on my bucket list forever. Once I was officially diagnosed I knew it was the time to pursue this dream. We did, and I am so glad that we have those memories.
Signing off for today. Live Strong.
Love this Angela! You are a true inspiration to many and an amazing mother and role model for your little Harlow ??
You rock! I’m so thankful you have answers to the mystery. Stay strong and think happy thoughts. Hugs and love ?
Touches my heart to hear your story in such detail. Keep writing! Sandy
Your story touched my heart ❤️. I’m glad to hear about your faith , God is so good and His grace will get us through. I’m believing in Gods healing and will be praying for you !
Thank you for sharing…Made me remember my own younger years… The day you realised you have FSHD you went to gym… Me, I did as many push-ups as I could and started bleeding from my nose because of the extreme stress… Mostly I was 16 years then
Thank you Angela. You are an inspiration. ☺️❤️
I have lived with it for 58 years of which I have known I had since I was 11. I hurt, but I have a good life. Knowing has allowed me to understand my limits but push my capabilities to live the fullest life I can. Many family members have it. My mother learned she had it in her 20s and helped all the family stay positive in the adversity of the disease.we can live a full life. I am not defined by FSHD, I am stronger because of it. It’s a struggle every day. I get it. Hoping for a cure or at very least helpful treatments.
Thank you for sharing your story. Your journey reminds me so much of mine. It’s not an easy battle but we need to keep our minds and faith strong. I believe in my heart that the cure for this debilitating disease is right around the corner.
Thank you Angela. FSHD is a difficult disease. Your positive attitude encourages others. good decision on your daughter in my opinion.
Thank you so much for sharing. My mother had scoliosis and my dad muscular dystrophy. Since I was 13; my scoliosis was always the focus with doctors and people. However in 2007 I was diagnosed with FSHD Muscular dystrophy. I have no shoulder muscles and my scoliosis is 62 degrees. I have had 6 orthopedic surgeries since 2011- two hip replacements, two hip revisions and one hip “remodel” and this year a total knee replacement. I am 73 now and facing surgery for scoliosis with muscular dystrophy. This will involve, kyohoplasty in 3 places, a cage and a rod. I am interested to find out if anyone has had successful back surgery as an adult with FSHD??
Hello Angela,
I am wondering if you can tell me which genes are mutated or damaged in FSHD. I’ve been given a generic MD diagnosis. I did the genetic testing and have 2 specific mutations. I have been in need of orthopedic surgery on my spine to try to correct stenosis before it paralyzes me. I’ve had kyphoplasty done, but more extensive surgery is needed. Surgeons won’t operate because of the MD.
Can you tell me which genes are affected?
Thanks
You are an inspiration for us all. Crosses my fingers for your child. Im under treatment for FSHD myself but my data is not conclusive. :-/
Angela,
You are amazing! I was loosely diagnosed with FSHD in my late 20’s, I am now 57. The condition is steadily worsening and I want to look into stem cell therapy. Thank you for sharing your journey.
Please keep posting.
Hi Angela,
Your cousin Emily have me your name as I was skating with her but last week was diagnosed with FSHD. It has been a frustrating journey to my diagnosis but looking back, it all makes sense. My mom way misdiagnosed with fibromyalgia but is now started her journey as well. My world has been turned upside down, I was so active and in the course of 4 months have become very limited due to the loss of reflexes, muscles and the pain.
Thank you for sharing your story as I am learning, I am not the only one.
Heidi
I’m 14 and I have FSHD sadly , i feel so uncomfortable in my own body now knowing things won’t get better makes me more upset! I’ve lost the majority of muscle and I’m just 14 which makes me thing about my future And the impacts it may have on me ?